Publications by authors named "Cara Heppell"

Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.

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Article Synopsis
  • * Whole genome sequencing (WGS) revealed a specific genetic variant related to his eye condition and an unexpected pathogenic variant associated with breast and ovarian cancer risks, despite no strong family history.
  • * The situation highlights the significance of genetic counseling to educate patients on the implications of incidental findings from genetic tests, which they cannot opt out of.
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